NRXN1

NRXN1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases NRXN1, Hs.22998, PTHSL2, SCZD17, neurexin 1
External IDs MGI: 1096391 HomoloGene: 21005 GeneCards: NRXN1
RNA expression pattern




More reference expression data
Orthologs
Species Human Mouse
Entrez

9378

18189

Ensembl

ENSG00000179915

ENSMUSG00000024109

UniProt

P58400
Q9ULB1
Q49A31

P0DI97
Q9CS84

RefSeq (mRNA)

NM_001135659
NM_004801
NM_138735
NM_001320156
NM_001320157

NM_020252
NM_177284

RefSeq (protein)

NP_064648.3
NP_796258.2

Location (UCSC) Chr 2: 49.92 – 51.23 Mb Chr 17: 90.03 – 91.09 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Neurexin-1-alpha is a protein that in humans is encoded by the NRXN1 gene.[3]

Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. They are encoded by several unlinked genes of which two, NRXN1 and NRXN3, are among the largest known human genes. Three of the genes (NRXN1-3) utilize two alternate promoters and include numerous alternatively spliced exons to generate thousands of distinct mRNA transcripts and protein isoforms. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms; a much smaller number of transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins.[3]

Genomics

The gene is found in a single copy on the short arm of chromosome 2 (2p16.3). The gene is 1,112,187 bases in length, is located on the Crick (minus) strand and encodes a protein of 1,477 amino acids (molecular weight 161.883 kDa).

Mutation of this gene that interrupt its expression have been associated with Schizophrenia, autism, and intellectual disability (NRXN1 mutations and brain disorders).

Interactions

NRXN1 has been shown to interact with NLGN1.[4][5]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 1 2 "Entrez Gene: NRXN1 neurexin 1".
  4. Comoletti, Davide; Flynn Robyn; Jennings Lori L; Chubykin Alexander; Matsumura Takehito; Hasegawa Hana; Südhof Thomas C; Taylor Palmer (Dec 2003). "Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1beta". J. Biol. Chem. United States. 278 (50): 50497–50505. doi:10.1074/jbc.M306803200. ISSN 0021-9258. PMID 14522992.
  5. Ichtchenko, K; Nguyen T; Südhof T C (Feb 1996). "Structures, alternative splicing, and neurexin binding of multiple neuroligins". J. Biol. Chem. UNITED STATES. 271 (5): 2676–2682. doi:10.1074/jbc.271.5.2676. ISSN 0021-9258. PMID 8576240.

Further reading


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